Canonical Allele Identifier: CA415180771

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641584G>T (hg19) ; chrX:g.154413247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413247G>T , CM000685.2:g.154413247G>T	GRCh38
NC_000023.10:g.153641584G>T , CM000685.1:g.153641584G>T	GRCh37
NC_000023.9:g.153294778G>T	NCBI36
NG_009634.1:g.6708G>T
NG_012884.2:g.3842C>A
NG_009634.2:g.6713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.707G>T
ENST00000698235.1:n.266G>T
ENST00000698317.1:n.1233G>T
ENST00000698318.1:n.1094G>T
ENST00000470127.2:n.328G>T
ENST00000475699.6:c.333G>T	ENSP00000419854.3:p.Met111Ile
ENST00000476800.2:n.1236G>T
ENST00000483674.3:n.170G>T
ENST00000601016.6:c.279G>T MANE Select	ENSP00000469981.1:p.Met93Ile
ENST00000612012.5:c.279G>T	ENSP00000482070.2:p.Met93Ile
ENST00000612460.5:c.279G>T	ENSP00000481037.1:p.Met93Ile
ENST00000614595.2:n.1629G>T
ENST00000615658.5:n.592G>T
ENST00000616020.5:c.333G>T	ENSP00000483636.2:p.Met111Ile
ENST00000617701.5:c.279G>T	ENSP00000481645.1:p.Met93Ile
ENST00000621647.2:n.332G>T
ENST00000652354.1:c.3G>T	ENSP00000498734.1:p.Met1Ile
ENST00000652358.1:c.-16G>T	ENSP00000498464.1:n.-16G>T
ENST00000652390.1:c.198G>T	ENSP00000498858.1:p.Met66Ile
ENST00000652476.1:n.440G>T
ENST00000652682.1:c.279G>T	ENSP00000498288.1:p.Met93Ile
ENST00000652685.1:n.331G>T
ENST00000369776.8:c.204G>T	ENSP00000358791.4:p.Met68Ile
ENST00000426231.5:c.95G>T
ENST00000439735.2:c.279G>T	ENSP00000398193.1:p.Met93Ile
ENST00000475699.5:c.279G>T	ENSP00000419854.2:p.Met93Ile
ENST00000476679.5:n.192G>T
ENST00000476800.1:n.157G>T
ENST00000479875.1:n.308G>T
ENST00000483780.5:n.53G>T
ENST00000601016.5:c.279G>T	ENSP00000469981.1:p.Met93Ile
ENST00000612012.4:c.333G>T	ENSP00000482070.1:p.Met111Ile
ENST00000612460.4:c.279G>T	ENSP00000481037.1:p.Met93Ile
ENST00000613002.4:c.279G>T	ENSP00000478154.1:p.Met93Ile
ENST00000613634.4:n.599G>T
ENST00000615658.4:n.605G>T
ENST00000615986.4:c.279G>T	ENSP00000480133.1:p.Met93Ile
ENST00000616020.4:c.333G>T	ENSP00000483636.1:p.Met111Ile
ENST00000617701.4:c.279G>T	ENSP00000481645.1:p.Met93Ile
ENST00000620808.4:c.279G>T	ENSP00000479311.1:p.Met93Ile
ENST00000621647.1:n.564G>T
NM_000116.4:c.279G>T	NP_000107.1:p.Met93Ile
NM_001303465.1:c.333G>T	NP_001290394.1:p.Met111Ile
NM_181311.3:c.279G>T	NP_851828.1:p.Met93Ile
NM_181312.3:c.279G>T	NP_851829.1:p.Met93Ile
NM_181313.3:c.279G>T	NP_851830.1:p.Met93Ile
NR_024048.2:n.605G>T
XM_006724836.1:c.333G>T	XP_006724899.1:p.Met111Ile
XM_006724837.1:c.333G>T	XP_006724900.1:p.Met111Ile
XM_006724839.1:c.333G>T	XP_006724902.1:p.Met111Ile
XM_006724841.2:c.-16G>T	XP_006724904.1:n.-16G>T
XM_006724842.2:c.-16G>T	XP_006724905.1:n.-16G>T
XM_011531189.1:c.333G>T	XP_011529491.1:p.Met111Ile
XM_011531190.1:c.-16G>T	XP_011529492.1:n.-16G>T
XM_011531191.1:c.3G>T	XP_011529493.1:p.Met1Ile
XM_011531192.1:c.-119G>T	XP_011529494.1:n.-119G>T
XR_938511.1:n.636G>T
XM_006724841.4:c.-16G>T	XP_006724904.1:n.-16G>T
XM_006724842.4:c.-16G>T	XP_006724905.1:n.-16G>T
XM_011531191.2:c.3G>T	XP_011529493.1:p.Met1Ile
XM_017029761.1:c.279G>T	XP_016885250.1:p.Met93Ile
XM_017029762.1:c.333G>T	XP_016885251.1:p.Met111Ile
XM_017029763.1:c.279G>T	XP_016885252.1:p.Met93Ile
XM_017029764.1:c.-119G>T	XP_016885253.1:n.-119G>T
XM_017029765.2:c.-16G>T	XP_016885254.1:n.-16G>T
XM_024452431.1:c.333G>T	XP_024308199.1:p.Met111Ile
NM_000116.5:c.279G>T MANE Select	NP_000107.1:p.Met93Ile
NM_001303465.2:c.333G>T	NP_001290394.1:p.Met111Ile
NM_181311.4:c.279G>T	NP_851828.1:p.Met93Ile
NM_181312.4:c.279G>T	NP_851829.1:p.Met93Ile
NM_181313.4:c.279G>T	NP_851830.1:p.Met93Ile
NR_024048.3:n.584G>T